Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, KPDPM 1. LF UK a VFN v Praze, Ke Karlovu 2, 128 08, Prague, Czech Republic.
Department of Toxicology and Metabolic Diseases, Heim Pal National Pediatric Institute, Budapest, Hungary.
Orphanet J Rare Dis. 2022 May 10;17(1):190. doi: 10.1186/s13023-022-02332-7.
Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to significant morbidity and reduced life expectancy is the main clinical feature of this multisystemic disease. Although enzyme replacement therapy with elosulfase alfa is established in Europe, the rarity of disease and other factors still set hurdles in having patients treated in some countries. Aim of this statement is to provide evidence-based guidance for the enzyme replacement treatment of Morquio A patients, harmonizing recommendations from published guidelines with the real-life clinical practice in the Central and South-Eastern European region.
The Consensus Group, convened by 8 Steering Committee (SC) members from 7 Central and South-Eastern European countries, consisted of a multidisciplinary group of 17 experts in the management of MPS in Central and South-Eastern Europe.
The SC met in a first virtual meeting with an external scientific coordinator, to discuss on clinical issues to be analyzed in guidance statements. Statements were developed by the scientific coordinator, evaluated by the SC members in a first modified-Delphi voting and adapted accordingly, to be submitted to the widest audience in the Consensus Conference. Following discussion and further modifications, all participants contributed to a second round of modified-Delphi voting.
Nine of ten statements, concerning general guidelines for management of MPS IVA patients and specific recommendations for treatment, received final consensus.
European guidelines and evidence-based recommendations for Morquio A patients should be considered in the real life of Central and South-Eastern European countries and adapted to unique clinical practice approaches and criteria for patients' access to treatment and reimbursement in the region.
黏多糖贮积症 IVA（MPS IVA），也称 Morquio A 综合征，是一种罕见的遗传性代谢疾病，由溶酶体酶 N-乙酰半乳糖胺-6-硫酸酯酶缺乏引起。一种进行性全身性骨骼软骨发育不良，导致显著的发病率和降低的预期寿命，是这种多系统疾病的主要临床特征。尽管欧洲已经确立了用艾拉司琼酶治疗 Elosulfase alfa，但由于疾病的罕见性和其他因素，仍有一些国家的患者在接受治疗方面存在障碍。本声明的目的是为 Morquio A 患者的酶替代治疗提供循证指导，使发表的指南建议与中东欧地区的实际临床实践相协调。
共识小组由来自 7 个中东欧国家的 8 名指导委员会（SC）成员召集，由来自中东欧地区的 17 名黏多糖贮积症管理方面的多学科专家组成。
SC 成员首次在一次虚拟会议上与一名外部科学协调员会面，讨论要在指导声明中分析的临床问题。声明由科学协调员制定，由 SC 成员在第一次修改后的德尔菲投票中进行评估，并根据需要进行相应调整，然后提交给共识会议的最广泛受众。经过讨论和进一步修改，所有参与者都为第二轮修改后的德尔菲投票做出了贡献。
十个声明中有九个，涉及 MPS IVA 患者管理的一般指南和治疗的具体建议，获得了最终共识。
应考虑将欧洲的 Morquio A 患者指南和循证建议纳入中东欧国家的实际生活，并根据该地区患者获得治疗和报销的独特临床实践方法和标准进行调整。
